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CIB3 calcium and integrin binding family member 3 [ Homo sapiens (human) ]

Gene ID: 117286, updated on 5-Mar-2024

Summary

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Official Symbol
CIB3provided by HGNC
Official Full Name
calcium and integrin binding family member 3provided by HGNC
Primary source
HGNC:HGNC:24580
See related
Ensembl:ENSG00000141977 MIM:610645; AllianceGenome:HGNC:24580
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIP3
Summary
This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16161368..16173525, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16295433..16307592, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16272179..16284336, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16182106-16182670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16186189-16186918 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:16186919-16187646 and GRCh37_chr19:16187647-16188376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16191291-16192018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14202 Neighboring gene tropomyosin 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16204789-16205662 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16207997-16208194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14207 Neighboring gene RAB8A, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16253936-16254630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10291 Neighboring gene hematopoietic SH2 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14215 Neighboring gene Sharpr-MPRA regulatory region 5225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16293505-16294004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16295228-16295863 Neighboring gene uncharacterized LOC124904646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10292 Neighboring gene family with sequence similarity 32 member A Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16315239-16315388 Neighboring gene adaptor related protein complex 1 subunit mu 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16334661-16335161

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Atomic force microscopy reveals distinct protofilament-scale structural dynamics in depolymerizing microtubule arrays. Wijeratne SS, et al. Proc Natl Acad Sci U S A, 2022 Feb 1. PMID 35101922, Free PMC Article
  2. CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells. Liang X, et al. Neuron, 2021 Jul 7. PMID 34089643, Free PMC Article
  3. Structural and biochemical characterization of CIB1 delineates a new family of EF-hand-containing proteins. Gentry HR, et al. J Biol Chem, 2005 Mar 4. PMID 15574431
  4. Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences. Huang H, et al. Biochem Cell Biol, 2012 Oct. PMID 22779914
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Atomic force microscopy reveals distinct protofilament-scale structural dynamics in depolymerizing microtubule arrays.
    Title: Atomic force microscopy reveals distinct protofilament-scale structural dynamics in depolymerizing microtubule arrays.
  2. CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.
    Title: CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.
  3. CIB3, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation.
    Title: Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC96922, MGC138405, MGC142151

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
calcium and integrin-binding family member 3
Names
DNA-dependent protein kinase catalytic subunit-interacting protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001300922.2 → NP_001287851.1  calcium and integrin-binding family member 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive alternate exons in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AB050868, AW295492, BC069428, BC112200
    Consensus CDS
    CCDS74305.1
    UniProtKB/Swiss-Prot
    Q96Q77
    Related
    ENSP00000369188.3, ENST00000379859.7
    Conserved Domains (2) summary
    pfam13499
    Location:59 → 124
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:62 → 124
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  2. NM_054113.4 → NP_473454.1  calcium and integrin-binding family member 3 isoform 1

    See identical proteins and their annotated locations for NP_473454.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB050868, AW295492, BC112200
    Consensus CDS
    CCDS12340.1
    UniProtKB/Swiss-Prot
    E7EUX1, Q2M1W0, Q6ISP1, Q96Q77
    UniProtKB/TrEMBL
    Q6NT26
    Related
    ENSP00000269878.3, ENST00000269878.8
    Conserved Domains (2) summary
    COG5126
    Location:20 → 178
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:111 → 173
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    16161368..16173525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    16295433..16307592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96Q77.3 GenPept UniProtKB/Swiss-Prot:Q96Q77

Gene LinkOut

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